LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Coronary heart disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs328
rs328
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0010068
Disease:
Coronary heart disease 		0.710 GeneticVariation BEFREE ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). 26934567 2016
dbSNP: rs328
rs328
Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0010068
Disease:
Coronary heart disease 		0.710 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011